Abstract <p>Current literature on the role of genetic factors in determining susceptibility to insufficient fetal growth (IFG) were analyzed. The review includes international and Russian studies published in Pubmed and eLibrary on this topic over the past ten years. By summarizing the results of these studies, it was possible to identify 39 genes, the polymorphic markers of which were studied in the context of IFG predisposition using a candidate approach. More than 50% of these genes (allelic variants of 20 genes) demonstrated an association with fetal growth restriction (FGR) and small-for-gestational-age (SGA). It should be noted that the results from some studies contradict each other, which probably results from small sample sizes in the analyzed studies, differences in the ethnicity of the individuals examined, and the lack of uniformity in the inclusion criteria for the study group. As of today, no genome-wide association studies (GWAS) have been conducted for NPCs. However, 96 GWAS have been conducted on the “birth weight” phenotypic trait, demonstrating an association with 622 polymorphic markers. It should be noted that only three genes, <i>ESR1</i>, <i>GPRC5B</i>, and <i>MTHFR</i>, were found to be associated with birth weight using both GWAS and candidate approaches. To clarify the role of the identified genes, identify new genetic risk factors, and conduct genome-wide association studies with IFG, further, larger-scale studies are required. Validation of the obtained results at several independent centers will allow for their implementation in clinical practice for personalized pregnancy management and improved pregnancy outcomes.</p>

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Genetic Structure of Insufficient Fetal Growth: Analysis of Candidate Genes and Data from the Genome-Wide Association Studies

  • E. V. Izhoykina,
  • E. A. Trifonova,
  • M. M. Gavrilenko,
  • I. G. Kutsenko,
  • V. A. Stepanov

摘要

Abstract

Current literature on the role of genetic factors in determining susceptibility to insufficient fetal growth (IFG) were analyzed. The review includes international and Russian studies published in Pubmed and eLibrary on this topic over the past ten years. By summarizing the results of these studies, it was possible to identify 39 genes, the polymorphic markers of which were studied in the context of IFG predisposition using a candidate approach. More than 50% of these genes (allelic variants of 20 genes) demonstrated an association with fetal growth restriction (FGR) and small-for-gestational-age (SGA). It should be noted that the results from some studies contradict each other, which probably results from small sample sizes in the analyzed studies, differences in the ethnicity of the individuals examined, and the lack of uniformity in the inclusion criteria for the study group. As of today, no genome-wide association studies (GWAS) have been conducted for NPCs. However, 96 GWAS have been conducted on the “birth weight” phenotypic trait, demonstrating an association with 622 polymorphic markers. It should be noted that only three genes, ESR1, GPRC5B, and MTHFR, were found to be associated with birth weight using both GWAS and candidate approaches. To clarify the role of the identified genes, identify new genetic risk factors, and conduct genome-wide association studies with IFG, further, larger-scale studies are required. Validation of the obtained results at several independent centers will allow for their implementation in clinical practice for personalized pregnancy management and improved pregnancy outcomes.